Detalhe da pesquisa
1.
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.
N Engl J Med
; 385(14): 1292-1301, 2021 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587386
2.
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Hum Mutat
; 42(4): e15-e61, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502066
3.
Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.
Am J Med Genet A
; 182(5): 953-956, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32128942
4.
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
Ann Hum Genet
; 82(5): 309-317, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29774539
5.
Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario.
Indian J Med Res
; 146(6): 689-699, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29664026
6.
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Am J Med Genet A
; 170(6): 1510-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27041150
7.
Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.
Indian Pacing Electrophysiol J
; 16(1): 8-18, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27485560
8.
GLRB is the third major gene of effect in hyperekplexia.
Hum Mol Genet
; 22(5): 927-40, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23184146
9.
Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.
Prenat Diagn
; 35(11): 1137-47, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26223439
10.
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Indian J Med Res
; 142(4): 414-25, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26609033
11.
Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.
J Cell Biochem
; 115(3): 566-74, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24130151
12.
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
Am J Hum Genet
; 89(6): 745-50, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22100072
13.
Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?
Am J Med Genet A
; 161A(1): 76-81, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23208825
14.
Utility of molecular studies in incontinentia pigmenti patients.
Indian J Med Res
; 133: 442-5, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21537100
15.
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease.
Clin Biochem
; 89: 14-37, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33301762
16.
Novel and recurrent mutations in WISP3 and an atypical phenotype.
Am J Med Genet A
; 167A(10): 2481-4, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25988854
17.
Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.
Indian J Gastroenterol
; 39(6): 599-607, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33191490
18.
Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease.
Eur J Med Genet
; 63(3): 103734, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31349084
19.
Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.
J Clin Lipidol
; 14(1): 35-45, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32044282
20.
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
J Neurol
; 266(8): 1919-1926, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069529